Detalhe da pesquisa
1.
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms.
J Med Genet
; 56(11): 769-777, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31366608
2.
Assessment of Selected Parameters of Liver Fibrosis and Inflammation in Patients with Diagnosed Cystic Fibrosis.
Mediators Inflamm
; 2020: 5696185, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32308556
3.
CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking.
Am J Respir Cell Mol Biol
; 61(4): 440-449, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30916986
4.
Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study.
Respir Res
; 20(1): 212, 2019 Sep 18.
Artigo
Inglês
| MEDLINE | ID: mdl-31533829
5.
Increased Soluble VCAM-1 and Normal P-Selectin in Cystic Fibrosis: a Cross-Sectional Study.
Lung
; 195(4): 445-453, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28646244
6.
Serum Phospholipid Fatty Acid Composition in Cystic Fibrosis Patients with and without Liver Cirrhosis.
Ann Nutr Metab
; 71(1-2): 91-98, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28738321
7.
Distribution of antibodies to selected antigens of Pseudomonas aeruginosa in children and young adults with cystic fibrosis.
Pneumonol Alergol Pol
; 82(4): 336-41, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24964236
8.
Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes.
Hum Genet
; 129(3): 283-93, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21136274
9.
Plastic Bronchitis-A Serious Rare Complication Affecting Children Only after Fontan Procedure?
J Clin Med
; 11(1)2021 Dec 23.
Artigo
Inglês
| MEDLINE | ID: mdl-35011785
10.
Nebulisation therapy in patients with cystic fibrosis - consensus of the Polish Cystic Fibrosis Society.
Adv Respir Med
; 2021 Dec 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34881808
11.
Fat-Soluble Vitamin Supplementation Using Liposomes, Cyclodextrins, or Medium-Chain Triglycerides in Cystic Fibrosis: A Randomized Controlled Trial.
Nutrients
; 13(12)2021 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34960106
12.
Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).
Respir Res
; 11: 174, 2010 Dec 08.
Artigo
Inglês
| MEDLINE | ID: mdl-21143860
13.
Small intestine bacterial overgrowth does not correspond to intestinal inflammation in cystic fibrosis.
Scand J Clin Lab Invest
; 70(5): 322-6, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20560844
14.
Circulating brain-derived neurotrophic factor, leptin, neuropeptide Y, and their clinical correlates in cystic fibrosis: a cross-sectional study.
Arch Med Sci
; 16(5): 1049-1056, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32863993
15.
Cystic fibrosis dyslipidaemia: A cross-sectional study.
J Cyst Fibros
; 18(4): 566-571, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30979683
16.
Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q.
Eur J Hum Genet
; 16(6): 688-95, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18270537
17.
Vitamin E status and its determinants in patients with cystic fibrosis.
Adv Med Sci
; 63(2): 341-346, 2018 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-30081288
18.
Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype.
J Appl Genet
; 48(1): 85-8, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-17272866
19.
Vitamin A status and its determinants in patients with cystic fibrosis.
Acta Sci Pol Technol Aliment
; 16(3): 345-354, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29055982
20.
Vitamin K status in cystic fibrosis patients with liver cirrhosis.
Dig Liver Dis
; 49(6): 672-675, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28185838